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DO Term : Buschke-Ollendorff syndrome [DOID:0111536] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3.

synonyms:
osteopathia condensans disseminata,
disseminated dermatofibrosis with osteopoikilosis,
166700,
MESH:C537415,
ORDO:1306,
SNOMEDCT_US_2023_03_01:60399005,
UMLS_CUI:C0265514,
GARD:1044,
dermatofibrosis lenticularis disseminata with osteopoikilosis,
dermatoosteopoikilosis,
OMIM:166700,
BOS

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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